RTD
MCID: RNL028
MIFTS: 49

Renal Tubular Dysgenesis (RTD) malady

Nephrological, Fetal categories

Summaries for Renal Tubular Dysgenesis

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).

MalaCards: Renal Tubular Dysgenesis, also known as primitive renal tubule syndrome, is related to nephritis and renal hypoplasia, and has symptoms including hypertelorism, autosomal recessive inheritance and microcephaly. An important gene associated with Renal Tubular Dysgenesis is AGT (angiotensinogen (serpin peptidase inhibitor, clade A, member 8)), and among its related pathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and Thromboxane signalling through TP receptor. The compounds captopril and sampatrilat have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and placenta, and related mouse phenotypes are renal/urinary system and growth/size.

Description from OMIM:47 267430

Aliases & Classifications for Renal Tubular Dysgenesis

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Nephrological


Aliases & Descriptions:

renal tubular dysgenesis 43 21 47 45 49
primitive renal tubule syndrome 43 21 49
renal tubular dysgenesis of genetic origin 49
allanson pantzar mcleod syndrome 21
renotubular dysgenesis 49
rtd 43


External Ids:

OMIM47 267430
ICD10 via Orphanet26 Q63.8

Related Diseases for Renal Tubular Dysgenesis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Renal Tubular Dysgenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1nephritis30.2ACE
2renal hypoplasia10.5
3hemochromatosis10.4
4neonatal hemochromatosis10.4
5renal tubular dysgenesis, ace-related10.3
6renal tubular dysgenesis, agt-related10.3
7renal tubular dysgenesis, agtr1-related10.3
8renal tubular dysgenesis, ren-related10.3
9renal tubular dysgenesis due to twin-twin transfusion10.3
10renal tubular dysgenesis drugs-related10.3
11nephronophthisis10.2
12microcephaly10.2
13nephrocalcinosis10.2
14n syndrome10.2
15twin twin transfusion syndrome10.2
16meconium ileus10.2
17ileus10.2
18anuria10.0ACE
19oligohydramnios10.0ACE
20dilated cardiomyopathy10.0ACE
21ischemia10.0AGT
22fibromuscular dysplasia10.0REN
23portal hypertension10.0REN
24congestive heart failure10.0REN
25obesity10.0AGT
26hypoaldosteronism10.0REN
27hepatorenal syndrome10.0REN
28cor pulmonale10.0AGTR1
29mitral valve prolapse10.0AGTR1
30glomerulonephritis10.0AGTR1
31ovarian hyperstimulation syndrome10.0REN
32proliferative diabetic retinopathy10.0AGT
33metabolic acidosis10.0REN
34nephrotic syndrome10.0ACE, AGT
35liver cirrhosis10.0REN, AGT
36malignant hypertension10.0ACE, REN
37hypertension, diastolic10.0ACE, REN
38dementia10.0AGTR1
39stroke, ischemic10.0REN, ACE
40renal hypertension10.0ACE, REN
41pure autonomic failure10.0REN, ACE
42gitelman syndrome10.0REN, AGT
43vesicoureteral reflux10.0AGTR1, AGT
44cerebrovascular disease10.0ACE, AGTR1
45hypertensive heart disease10.0ACE, AGTR1
46pulmonary fibrosis10.0AGTR1, AGT
47polycystic kidney disease, autosomal dominant10.0REN, ACE
48angioedema10.0ACE, AGT
49hypokalemia10.0ACE, REN
50erythrocytosis10.0AGTR1, ACE

Graphical network of the top 20 diseases related to Renal Tubular Dysgenesis:



Diseases related to renal tubular dysgenesis

Clinical Features for Renal Tubular Dysgenesis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

267430

Clinical synopsis from OMIM:

267430

Symptoms:

49 (show all 14)
  • hypertelorism
  • autosomal recessive inheritance
  • microcephaly
  • renal disease/nephropathy
  • renal tubular defect/tubulopathy
  • hyperextensible joints/articular hyperlaxity
  • stillbirth/neonatal death
  • polycystic kidneys
  • tetralogy of fallot/trilogy of fallot
  • polyhydramnios
  • simian crease/transverse/unique palmar crease
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • oligoamnios
  • prematurity

Drugs & Therapeutics for Renal Tubular Dysgenesis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Renal Tubular Dysgenesis

Drug clinical trials:

Search ClinicalTrials for Renal Tubular Dysgenesis

Search NIH Clinical Center for Renal Tubular Dysgenesis

Search CenterWatch for Renal Tubular Dysgenesis

Genetic Tests for Renal Tubular Dysgenesis

Anatomical Context for Renal Tubular Dysgenesis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Renal Tubular Dysgenesis:

33
Liver, Kidney, Placenta, Fetal liver

Animal Models for Renal Tubular Dysgenesis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Renal Tubular Dysgenesis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.0ACE, REN, AGT, AGTR1
2MP:00053788.0ACE, REN, AGT, AGTR1
3MP:00053857.9AGTR1, AGT, REN, ACE
4MP:00053877.7AGTR1, AGT, REN, ACE

Publications for Renal Tubular Dysgenesis

Sources:
51PubMed
See all sources

Articles related to Renal Tubular Dysgenesis:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Renal tubular dysgenesis. (23636579)
2014
2
Recurrent massive perivillous fibrin deposition in the placenta associated with fetal renal tubular dysgenesis: case report and literature review. (23899317)
2013
3
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. (22095942)
2012
4
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. (21265929)
2011
5
Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking. (21036942)
2011
6
Renin-angiotensin system in kidney development: renal tubular dysgenesis. (19924102)
2010
7
Non-specific histopathological changes in kidney with renal tubular dysgenesis. (19616900)
2010
8
Inherited renal tubular dysgenesis may not be universally fatal. (20607303)
2010
9
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. (19809376)
2010
10
A further case of renal tubular dysgenesis surviving the neonatal period. (18478260)
2009
11
Congenital unilateral renal tubular dysgenesis and severe neonatal hypertension. (18982358)
2009
12
Renal tubular dysgenesis in Israel: pathologist's experience and literature review. (19344005)
2009
13
Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. (17443344)
2008
14
Renal tubular dysgenesis: report of two cases in a non-consanguineous couple and review of the literature. (17003548)
2007
15
A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. (17036344)
2006
16
Renal tubular dysgenesis with atypical histology and in-utero exposure to naproxen sodium. (16925962)
2006
17
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system. (16790508)
2006
18
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. (16116425)
2005
19
Renal tubular dysgenesis with hypoplastic calvaria: report of two cases. (15517826)
2004
20
Renal tubular dysgenesis-a case presentation. (15641273)
2004
21
Renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia. (14677054)
2004
22
Renal tubular dysgenesis complicated with severe cranium hypoplasia. (15043673)
2004
23
Renal tubular dysgenesis. (12908566)
2003
24
Renal tubular dysgenesis in an hydropic fetus with trisomy 21: a case report with literature review. (15018458)
2003
25
Renal tubular dysgenesis and multiple intestinal perforation. (12447649)
2003
26
Renal tubular dysgenesis in siblings. (12908573)
2003
27
Renal tubular dysgenesis with medullary ray nodules. (12644933)
2003
28
Fibroepithelial bladder polyp and renal tubular dysgenesis: an unusual cause of third-trimester oligohydramnios. (11549150)
2001
29
Lysozyme immunostaining in renal tubular dysgenesis. (10679040)
2000
30
Renal tubular dysgenesis-like lesions and hypocalvaria. Report of two cases involving indomethacin. (11186177)
2000
31
Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature. (11156331)
2000
32
Oxalate nephrocalcinosis in renal tubular dysgenesis. (10671031)
1999
33
Renal tubular dysgenesis in twin-twin transfusion syndrome. (9841703)
1999
34
Renal tubular dysgenesis in twins. (9686962)
1998
35
Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. (9350819)
1997
36
Renal tubular dysgenesis: a cause of second trimester oligohydramnios. (9321784)
1997
37
Renal tubular dysgenesis with microcephaly. (9260254)
1997
38
Renal tubular dysgenesis: a report of two cases. (8979193)
1996
39
Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules. (8705201)
1995
40
Renal tubular dysgenesis without pulmonary hypoplasia. (8018503)
1994
41
Labeled lectin studies of renal tubular dysgenesis and renal tubular atrophy of postnatal renal ischemia and end-stage kidney disease. (8159624)
1994
42
Renal tubular dysgenesis: evidence of abnormality in the renin-angiotensin system. (7994002)
1994
43
Renal tubular dysgenesis. (8160762)
1994
44
Renal tubular dysgenesis present in a newborn with meconium ileus. (8008688)
1994
45
Renal tubular dysgenesis: a description of early renal maldevelopment in siblings. (8464784)
1993
46
Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review. (1642268)
1992
47
Renal tubular dysgenesis. (1853827)
1991
48
Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type. (1877630)
1991
49
Renal tubular dysgenesis: delayed onset of oligohydramnios. (2650547)
1989
50
Renal tubular dysgenesis. (3211817)
1988

Genetic Variations for Renal Tubular Dysgenesis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Renal Tubular Dysgenesis:

63
id Symbol AA change Variation SNP ID
1AGTp.Arg375GlnVAR_035433
2AGTR1p.Thr282MetVAR_035086
3RENp.Arg230LysVAR_035087
4RENp.Asp104AsnVAR_035088

Expression for genes affiliated with Renal Tubular Dysgenesis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Renal Tubular Dysgenesis

Search GEO for disease gene expression data for Renal Tubular Dysgenesis.

Pathways for genes affiliated with Renal Tubular Dysgenesis

Sources:
50PharmGKB, 38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 52QIAGEN
See all sources

Compounds for genes affiliated with Renal Tubular Dysgenesis

Sources:
45Novoseek, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 11DrugBank, 24HMDB, 2BitterDB
See all sources

Compounds related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
1captopril45 29 50 60 1114.3REN
2sampatrilat459.5ACE, REN
3ibopamine459.4ACE, REN
4temocaprilat459.3ACE, AGTR1
5alacepril459.2REN, ACE
6remikiren45 1110.2ACE, REN, AGT
7enalaprilat459.2ACE, REN, AGT
8cv 11974459.1AGTR1, AGT
9perindoprilat459.0REN, ACE
10pd12331945 2910.0AGTR1, AGT, ACE
11lacidipine458.9ACE, REN, AGTR1
12cilazapril45 119.9AGTR1, REN, ACE
13trandolapril45 119.9AGTR1, REN, ACE
14eplerenone45 60 29 1111.9AGTR1, REN, ACE
15fosinopril45 119.9AGTR1, REN, ACE
16quinapril45 119.9ACE, REN, AGTR1
17ramipril45 119.8AGTR1, REN, ACE
18thiazide458.8ACE, REN, AGTR1
19felodipine45 29 1110.8AGTR1, REN, ACE
20dihydropyridine458.8ACE, REN, AGTR1
21spironolactone50 45 60 29 1112.8ACE, REN, AGTR1
22carvedilol45 50 29 1111.8AGTR1, REN, ACE
23nitroglycerin45 119.8ACE, REN, AGTR1
24digoxin45 50 60 11 2412.8AGTR1, REN, ACE
25furosemide45 50 60 29 11 2413.7AGTR1, REN, ACE
26haloperidol45 29 2 50 1112.5REN, AGT, AGTR1
27aliskiren45 119.4ACE, REN, AGT, AGTR1
28saralasin458.4AGTR1, AGT, REN, ACE
29eprosartan45 29 1110.4AGTR1, AGT, REN, ACE
30benazepril45 119.4AGTR1, AGT, REN, ACE
31olmesartan45 29 1110.4AGTR1, AGT, REN, ACE
32lisinopril45 11 2410.4AGTR1, AGT, REN, ACE
33chymostatin458.4ACE, REN, AGT, AGTR1
34atenolol45 29 50 11 2412.4AGTR1, AGT, REN, ACE
35valsartan45 60 29 1111.4AGTR1, AGT, REN, ACE
36telmisartan45 29 1110.4AGTR1, AGT, REN, ACE
37perindopril45 50 1110.4AGTR1, AGT, REN, ACE
38irbesartan45 29 50 1111.4AGTR1, AGT, REN, ACE
39hydrochlorothiazide45 50 29 11 2412.4AGTR1, AGT, REN, ACE
40diltiazem45 29 1110.4AGTR1, AGT, REN, ACE
41candesartan45 29 1110.4AGTR1, AGT, REN, ACE
42enalapril45 50 1110.4AGTR1, AGT, REN, ACE
43amlodipine45 50 11 2411.4AGTR1, AGT, REN, ACE
44ang ii458.4AGTR1, AGT, REN, ACE
45losartan45 50 29 1111.4AGTR1, AGT, REN, ACE
46nifedipine45 50 29 1111.3AGTR1, AGT, REN, ACE
47prostacyclin458.3ACE, REN, AGT, AGTR1
48potassium45 11 2410.2AGTR1, AGT, REN, ACE
49sodium45 249.2AGTR1, AGT, REN, ACE
50creatinine458.1AGTR1, AGT, REN, ACE

GO Terms for genes affiliated with Renal Tubular Dysgenesis

Sources:
16Gene Ontology
See all sources

Cellular components related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.8ACE, REN, AGT

Biological processes related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1regulation of renal output by angiotensinGO:0020199.7AGT, ACE
2blood vessel remodelingGO:0019749.6ACE, AGT
3positive regulation of NAD(P)H oxidase activityGO:0338649.5AGTR1, AGT
4regulation of blood vessel size by renin-angiotensinGO:0020349.4AGT, AGTR1
5regulation of renal sodium excretionGO:0358139.4AGT, AGTR1
6regulation of systemic arterial blood pressure by renin-angiotensinGO:0030819.4AGTR1, ACE
7positive regulation of cholesterol esterificationGO:0108739.4AGT, AGTR1
8regulation of vasodilationGO:0423129.4AGTR1, ACE
9low-density lipoprotein particle remodelingGO:0343749.4AGTR1, AGT
10positive regulation of cellular protein metabolic processGO:0322709.4AGT, AGTR1
11positive regulation of macrophage derived foam cell differentiationGO:0107449.3AGTR1, AGT
12positive regulation of reactive oxygen species metabolic processGO:20003799.3AGT, AGTR1
13phospholipase C-activating G-protein coupled receptor signaling pathwayGO:0072009.2AGTR1, AGT
14regulation of blood pressureGO:0082179.2REN, ACE
15positive regulation of inflammatory responseGO:0507299.2AGT, AGTR1
16angiotensin maturationGO:0020039.1AGT, REN, ACE
17regulation of cell proliferationGO:0421279.1AGT, AGTR1
18regulation of vasoconstrictionGO:0192298.9ACE, AGT, AGTR1
19renin-angiotensin regulation of aldosterone productionGO:0020188.9REN, AGT, AGTR1
20regulation of cell growthGO:0015588.8AGT, AGTR1
21cellular protein metabolic processGO:0442678.8ACE, REN, AGT
22kidney developmentGO:0018228.3ACE, REN, AGT, AGTR1

Molecular functions related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bradykinin receptor bindingGO:0317119.1ACE, AGTR1
2acetyltransferase activator activityGO:0106988.8AGT, AGTR1

Products for genes affiliated with Renal Tubular Dysgenesis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Renal Tubular Dysgenesis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet